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Search Results to Rosanna Weksberg

This is a "connection" page, showing the details of why an item matched the keywords from your search.


One or more keywords matched the following items that are connected to Weksberg, Rosanna

Item TypeName
Concept Intellectual Disability
Academic Article Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.
Academic Article Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome?
Academic Article Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
Academic Article Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Academic Article Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Academic Article SHANK1 Deletions in Males with Autism Spectrum Disorder.
Academic Article Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Academic Article Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome.
Academic Article Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Academic Article Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
Academic Article Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.
Academic Article Phenotype of adults with the 22q11 deletion syndrome: A review.
Academic Article Detecting rearrangements in children using subtelomeric FISH and SKY.
Academic Article Further delineation of cardiac abnormalities in Costello syndrome.
Academic Article New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Academic Article Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Academic Article HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Academic Article Rare SUZ12 variants commonly cause an overgrowth phenotype.
Academic Article DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Academic Article De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Academic Article Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

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  • Intellectual Disability